ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Génétique des Maladies du Développement, Hospices Civils de Lyon and "uncertain significance" from any submitter

Minimum review status of the submission from Génétique des Maladies du Développement, Hospices Civils de Lyon: Collection method of the submission from Génétique des Maladies du Développement, Hospices Civils de Lyon:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 8
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HGVS dbSNP
NM_000742.4(CHRNA2):c.937C>T (p.Leu313Phe) rs886042322
NM_001040142.2(SCN2A):c.1199C>G (p.Thr400Arg) rs776206684
NM_001128849.2(SMARCA4):c.2936G>A (p.Arg979Gln) rs797045981
NM_001271.4(CHD2):c.2095C>T (p.Arg699Trp) rs1131691515
NM_001330260.2(SCN8A):c.4877G>A (p.Arg1626His) rs886044328
NM_006567.5(FARS2):c.667C>T (p.Arg223Cys) rs202060864
NM_006920.6(SCN1A):c.5033T>C (p.Met1678Thr) rs1559104676
NM_007118.4(TRIO):c.3232C>T (p.Arg1078Trp) rs1554065887

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